ClinVar Miner

Variants in gene TCOF1

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
132 45 271 299 127 5 770

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Treacher Collins syndrome 1 108 29 155 191 79 1 553
not provided 29 11 86 95 96 0 293
TCOF1-related condition 2 5 12 45 8 0 72
Inborn genetic diseases 1 0 51 6 0 0 58
not specified 0 0 3 20 31 0 39
Treacher Collins syndrome 2 0 0 0 0 4 6
See cases 3 0 0 0 0 0 3
Hearing impairment 0 0 1 1 0 0 2
Treacher Collins Syndrome, Dominant 0 0 2 0 0 0 2
Crouzon syndrome; Treacher Collins syndrome 1 0 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 78 4 142 188 75 0 487
GeneDx 28 8 74 52 95 0 257
PreventionGenetics, part of Exact Sciences 2 5 12 46 24 0 89
Ambry Genetics 1 0 51 6 0 0 58
CeGaT Center for Human Genetics Tuebingen 3 2 5 19 12 0 41
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 2 17 5 0 24
Genetic Services Laboratory, University of Chicago 3 0 0 17 1 0 21
3billion 5 12 1 0 0 0 18
Eurofins Ntd Llc (ga) 0 0 4 2 10 0 16
Athena Diagnostics Inc 0 0 1 1 13 0 15
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 11 0 0 12
OMIM 11 0 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 1 0 10
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 5 2 0 7
Revvity Omics, Revvity 1 0 5 0 0 0 6
Mendelics 3 0 1 1 1 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 4 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Medical Molecular Genetics Department, National Research Center 1 4 0 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 4 0 0 1 0 0 5
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 2 3 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 3 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 1 0 0 0 3
Autoinflammatory diseases unit, CHU de Montpellier 2 1 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 1 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 1 0 2
Clinical Genomics Program, Stanford Medicine 0 1 1 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 0 0 1 1 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
ISCA site 4 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 0 0 0 1

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